Dynamic transport and localization of alpha-synuclein in primary hippocampal neurons

por Yang, Mong-Lin, Hasadsri, Linda, Woods, Wendy S, George, Julia M
Publicado 2010

Anti-Yo Associated Paraneoplastic Cerebellar Degeneration in a Man with Large Cell Cancer of the Lung

por Hasadsri, Linda, Lee, James, Wang, Bonnie H., Yekkirala, Lalitha, Wang, Mingtao
Publicado 2013

Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta

por Wilton, Katelynn M., Gunderson, Lauren B., Hasadsri, Linda, Wood, Christopher P., Schimmenti, Lisa A.
Publicado 2020

Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia

por Cocanougher, Benjamin, Aypar, Umut, McDonald, Amber, Hasadsri, Linda, Bennett, Michael J., Edward Highsmith, W., D׳Aco, Kristin
Publicado 2015

Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease

por Cocanougher, Benjamin, Aypar, Umut, McDonald, Amber, Hasadsri, Linda, Bennett, Michael J., Edward Highsmith, W., D'Aco, Kristin
Publicado 2015

Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants

por Gupta, Aditi, Ewing, Sarah A., Renaud, Deborah L., Hasadsri, Linda, Raymond, Kimiyo M., Klee, Eric W., Gavrilova, Ralitza H.
Publicado 2019

Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy

por Zepeda‐Mendoza, Cinthya J., Bontrager, Jordan E., Fisher, Camille F., McDonald, Amber, George‐Abraham, Jaya K., Hasadsri, Linda
Publicado 2022

A novel head-neck cooling device for concussion injury in contact sports

por Wang, Huan, Wang, Bonnie, Jackson, Kevin, Miller, Claire M., Hasadsri, Linda, Llano, Daniel, Rubin, Rachael, Zimmerman, Jarred, Johnson, Curtis, Sutton, Brad
Publicado 2015

Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE)

por Ng, Peng Soon, Pinto, Marcus V., Neff, Jadee L., Hasadsri, Linda, Highsmith, Edward W., Fidler, Mary E., Gavrilova, Ralitza H., Klein, Christopher J.
Publicado 2019

Mitochondriopathy Manifesting as Inherited Tubulointerstitial Nephropathy Without Symptomatic Other Organ Involvement

por Buglioni, Alessia, Hasadsri, Linda, Nasr, Samih H., Hogan, Marie C., Moyer, Ann M., Siddique, Khurrum, Kidd, Kendrah, Kmoch, Stanislav, Hodaňová, Kateřina, Bleyer, Anthony J., Alexander, Mariam P.
Publicado 2021

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2

por Blackburn, Patrick R., Schultz, Matthew J., Lahner, Carrie A., Li, Dong, Bhoj, Elizabeth, Fisher, Laura J., Renaud, Deborah L., Kenney, Amy, Ibrahim, Niema, Hashem, Mais, Zain Seidahmed, Mohammed, Hasadsri, Linda, Schrier Vergano, Samantha A., Alkuraya, Fowzan S., Lanpher, Brendan C.
Publicado 2020

Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease

por Cannata Serio, Magda, Graham, Laurie A., Ashikov, Angel, Larsen, Lars Elmann, Raymond, Kimiyo, Timal, Sharita, Le Meur, Gwenn, Ryan, Margret, Czarnowska, Elzbieta, Jansen, Jos C., He, Miao, Ficicioglu, Can, Pichurin, Pavel, Hasadsri, Linda, Minassian, Berge, Rugierri, Alessandra, Kalimo, Hannu, Ríos‐Ocampo, W. Alfredo, Gilissen, Christian, Rodenburg, Richard, Jonker, Johan W., Holleboom, Adriaan G., Morava, Eva, Veltman, Joris A., Socha, Piotr, Stevens, Tom H., Simons, Matias, Lefeber, Dirk J.
Publicado 2020

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

por Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth
Publicado 2020